autosomal recessive congenital ichthyosis

We identified six n … Congenital ichthyosis in the Golden Retriever is inherited in an autosomal recessive fashion. As we stated earlier, ichthyosis is an autosomal recessive type disease in dogs. Related to Congenital ichthyosis: Ichthyosis congenita, autosomal recessive congenital ichthyosis. The other primary ichthyoses, autosomal recessive congenital ichthyosis and epidermolytic ichthyosis, occur much less frequently, with an estimated prevalence of about 1 in 300,000. GENETIC TESTING AND MOLECULAR BIOMARKERS Volume 23, Number 6, 2019 ª Mary Ann Liebert, Inc. Pp. (a and b) 1.5-yr-old female American bulldog with lesions that resemble congenital ichthyosiform erythroderma. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing … Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin. The disease is transmitted as an autosomal recessive trait. The main feature of the disorder is … It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). Get Treatment For Ichthyosis Congenita, A Rare Condition- GoMedii. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Background Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis.Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. The major clinical features are: congenital collodion membrane, ectropion, eclabium, … A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-1 (ARCI1) is caused by homozygous or compound heterozygous mutation in the gene encoding keratinocyte transglutaminase (TGM1; 190195) on chromosome 14q12. Get Treatment For Ichthyosis Congenita, A Rare Condition- GoMedii. Congenital ichthyosis type 3. The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. Autosomal recessive congenital ichthyosis including harlequin ichthyosis are passed on in an autosomal recessive manner – this means that a child has to inherit the faulty gene from both parents to risk having the condition. ARCI includes harlequin ichthyosis, congenital ichthyrosis erythroderma and lamellar ichthyosis (Oji et al. Lamellar ichthyosis and congenital ichthyosiform erythroderma. The term autosomal recessive congenital ichthyosis (ARCI) is used to refer to harlequin ichthyosis (HI) and disorders of the lamellar ichthyosis/congenital ichthyosiform erythroderma (LI/CIE) phenotypic spectrum. Keratinopathic ichthyoses (1:200,000) have recessive and dominant forms and present at birth with a collodion membrane. (b) generalised fine white scale throughout pelage. Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T, et al. Netherton syndrome (NS) is a rare, autosomal recessive disorder, and is characterized by congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa, trichorrhexis invaginata or other hair shaft abnormalities, and atopic diathesis Mit Anmerkungen Von G. F. Benecke Und K. Lachmann. Autosomal recessive congenital ichthyosis (ARCI) is a recently adopted term referring to a heterogeneous group of disorders that share an autosomal recessive pattern of inheritance, collodion membrane presentation at birth and overlap in causative gene mutations. Description. Artigos. Abstract. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Journal of medical genetics. Autosomal recessive (non-syndromic) congenital ichthyosis (ARCI) Most neonates with ARCI present as collodion babies with a taut translucent membrane encasing the entire body that lasts for up to two weeks. Review. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of keratinization disorders characterized primarily by abnormal skin scaling over the whole body . The Journal seeks to publish high … Clinical characteristics. Autosomal recessive congenital ichthyosis (ARCI) in American bulldog and golden retriever. We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes three lipoxygenase genes, ALOXE3, ALOX12B, and ALOX15B. Among the most common of these orphan disorders are autosomal recessive congenital ichthyosis (ARCI) with its phenotypic subsets of lamellar ichthyosis (ARCI-LI) and congenital ichthyosiform erythroderma (ARCI-CIE), epidermolytic ichthyosis (EI) and Netherton syndrome (NS). Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes. Autosomal recessive. The major clinical features are: congenital collodion membrane, ectropion, eclabium, alopecia, … These disorders are mostly nonsyndromic and limited to skin; a total of 60–70% of patients present with severe symptoms, including a collodion membrane at birth. J Am Acad Dermatol 63(4):607-641, 2010). Molecular studies. Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. About TGM1-deficient ARCI. TGM1. Two copies of the variant must be present for the disease to … a heterogeneous group of disorders that present at birth with generalized involvement of skin and lack of manifestations in other organ systems. Molecular Genetic Studies Of 3 Autosomal Recessive Disorders: Sjogren Larsson Syndrome, Glutathione Synthetase Deficiency And Congenital Ichthyosis (Comprehensive Summaries Of Uppsala Dissertations)|Maritta Pigg, Encyclopedia of African History and Culture (Facts on File Library of World History - 3 Vol. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. A minority of patients with nonsyndromic autosomal recessive congenital ichthyosis (ARCI) display mutations in NIPAL4 (ICHTHYIN). ARCI includes harlequin ichthyosis, congenital ichthyrosis erythroderma and lamellar ichthyosis (Oji et al. J Am Acad Dermatol 63(4):607-641, 2010). The study describes a moderate form of ARCI in an extended pedigree of America … Background. 609383. Pesquisa de informação médica. Congenital ichthyosiform erythroderma This type of ichthyosis generally show signs at birth with the appearance of a collodion membrane on the newborn baby. Whereas autosomal ichthyosis vulgaris is a common, mild disease, other forms are mostly rare, congenital diseases, such as ARCI, including the very severe harlequin ichthyosis 1. The term ichthyosis refers to a variety of different scaling disorders, ranging from the relatively common ichthyosis vulgaris (IV) to recessive X-linked ichthyosis (RXLI) and epidermolytic ichthyosis (formerly called EHK). Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. autosomal recessive congenital ichthyosis and its genes ARCI is a heterogeneous group of dis-orders of keratinization characterized mainly by abnormal skin scaling over the whole body. by admin. Methods: The TGM1 mutation spectrum was characterised and genotype–phenotype correlations investigated in 104 patients … Our lab has been studying yet another kind of ichthyosis: autosomal recessive congenital ichthyosis (ARCI). The ichthyoses are skin disorders that feature scaling and redness of the skin with or without associated systemic abnormalities. Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. Ichthyosis, congenital, autosomal recessive 10, 615024; OMIM 612121 Clinvar variants Variants in PNPLA1 Penetrance Complete Publications. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. Less commonly, cancer syndromes are inherited in an autosomal recessive manner. In this example pedigree chart the only person that will have an increased risk of cancer is the homozygous recessive male in the second generation; although there are many carriers of the gene. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. We received a case with the condition and the query read “treatment for ichthyosis congenita”. Autosomal recessive. This means that the … 14. Journal of Dermatological Science. Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene ( TGM1) mutations leading to a temperature sensitive phenotype. Two copies of the variant must be present for the disease to manifest, and both sexes are equally affected. Severe congenital neutropenia autosomal recessive 3 Severe congenital neutropenia X-linked 612281. TGM1-related autosomal recessive congenital ichthyosis (ARCI) is a genetic skin condition caused by a disruption in the proper formation of proteins that are found in the outer layer of the skin (epidermis). autosomal recessive congenital ichthyosis 4B (DOID:0060713) Alliance: disease page Synonyms: ARCI4B; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis Alt IDs: OMIM:242500, ICD10CM:Q80.4, ORDO:457 Definition: An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and … Many patients are born as collodion babies (CBs). The inheritance pattern among the disorders with prelingual nonsyndromic hearing loss is 80% autosomal recessive, 20% autosomal dominant, and 1%-1.5% X-linked, mitochondrial, or other [Smith et al 2005]. J Pediatr. Conceptually, congenital autosomal recessive ichthyosis is a useful term that encompasses several clinical phenotypes, each of which may be difficult to precisely diagnose on the basis of appearance, but which share congenital onset and pattern of inheritance. The ABCA12 gene is believed to encode a transporter protein involved in the transport of epidermal lipids across cell membranes and is essential for normal skin development . {{configCtrl2.info.metaDescription}} This site uses cookies. Food and Drug Administration to initiate a Phase 1/2, first in-human trial of KB105, an HSV-1 based gene therapy engineered to deliver a human transglutaminase-1 gene to patients with TGM1-deficient autosomal recessive congenital ichthyosis.TGM1-deficient ARCI is a debilitating rare skin disease characterized by excessive, thick scaling of the skin and causing multiple chronic … This protein plays a role in epidermal lipid metabolism, although the mechanism is unknown. Topical KB105 Gene Therapy for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Autosomal recessive congenital ichthyosis (ARCI) is a highly heterogeneous skin scaling disorder caused by abnormal skin keratinization. Citation on PubMed; Richard G. Autosomal Recessive Congenital Ichthyosis. Congenital ichthyosis in the Golden Retriever is inherited in an autosomal recessive fashion. The newborn is born encased in a collodion membrane that sheds within 10-14 days. TGM1 accounts for 38%-55% of ARCI. A minority of patients with nonsyndromic autosomal recessive congenital ichthyosis (ARCI) display mutations in NIPAL4 (ICHTHYIN). The shedding of the membrane reveals generalized scaling with variable redness of the skin. In autosomal recessive congenital ichthyosis (1:3–500,000) one abnormal gene is inherited from each parent. Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. 2004 Jul;145(1):82-92. TEXT. 2001 Jan 10 [updated 2017 May 18]. Sugiura K, Akiyama M. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. Lamellar ichthyosis (LI) is an autosomal recessive disorder that is apparent at birth and is present throughout life. Ichthyosis can also be … disorders is inherited in an autosomal dominant pattern, in which about 50% of variants occur sporadically (de novo). Harlequin ichthyosis is a genetic condition that’s passed on through autosomal recessive genes. Congenital ichthyosis type 1. Ultrastructure. The patients were examined Autosomal recessive congenital ichthyosis (ARCI) is a clinically by one of the authors (TG-D) with the exception of heterogeneous group of inherited disorders 1 that affect two cases that were examined by local dermatologists the keratinisation process in the skin. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. 428–432 DOI: 10.1089/gtmb.2018.0310 Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing Noreen Karim, Aman Ullah, Ghulam Murtaza, and Muhammad Naeem … This Guide to the List of Recognised Disabilities is based on determinations approved in 2005, 2006, 2010, 2011 and 2014 by the Secretary of the Australian Government Department of Social Services.. Part 1 - Recognised Disabilities. Citation on PubMed; Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Autosomal recessive congenital ichthyosis (ARCI) in golden retrievers is due to a PNPLA1 gene mutation, which plays a role in epidermal lipid organization and metabolism. Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Moderate to severe multiple disability or moderate to severe physical disability (including neurological … Parallel biochemical studies have elucidated important functional aspects of these findings (Brash et al., 2007), and it … Autosomal recessive pseudohypoaldosteronism type 1 Barakat syndrome Bardet-Biedl syndrome ... Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ... Ichthyosis-intellectual disability-dwarfism-renal impairment IgA nephropathy Transglutaminase 1 (TGM1) is an essential epidermal enzyme that facilitates the formation of the epidermal barrier, which prevents dehydration and protects the skin from unwanted toxins and surface microorganisms. Autosomal Recessive Congenital Ichthyosis Type 4A (LI2): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. Update on Research on Autosomal Recessive Congenital Ichthyosis/Lamellar Ichthyosis Professor Edel O’Toole, Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, London (ISG MAB) Transglutaminase 1 is an enzyme produced in the upper layers of the skin which is important for formation of the skin barrier. While we were looking into the case, we understood that it was rare and we had to bring it to our reader’s attention. See additional information. Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) autosomal recessive congenital ichthyosis: A clinically and genetically heterogeneous group of inherited disorders (ARCIs) of keratinisation, with an estimated incidence of … 2015;79(1):4-9. Guide to the List of Recognised Disabilities. Autosomal recessive congenital ichthyosis (ARCI) in American bulldog and golden retriever. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. This leads to hyperthermia, especially at high outside temperatures. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Non-epidermolytic: This is breed-specific and has an autosomal recessive inheritance pattern. Ichthyosis comes from the Greek ἰχθύς ichthys, literally "fish", since dry, scaly skin is the … About Autosomal Recessive Congenital Ichthyosis Transglutaminase 1 (TGM-1) is an essential epidermal enzyme that facilitates the formation of the epidermal barrier, which prevents dehydration, and protects the skin from unwanted toxins and surface microorganisms. Autosomal Recessive Congenital Ichthyosis, or ARCI, is a life-long, severe genetic skin disease. While we were looking into the case, we understood that it was rare and we had to bring it to our reader’s attention. All ARCI conditions are considered a clinical spectrum. Mutations in nine genes have been described in ARCI to date, and most of these mutated genes have been related to both LI and CIE. abnormal gene (autosomal recessive) and the risk of a further child being affected is 1 in 4. You can be a carrier without actually having the disease. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. In congenital autosomal recessive ichthyosis, the large folds, face and scalp are always affected. Ichthyosis comes from the Greek ἰχθύς ichthys, literally "fish", since dry, scaly skin is the … Attention. Técnicas e Equipamentos Analíticos, Diagnósticos e Terapêuticos 1 1.1.1 Congenital Autosomal Recessive Ichthyosis. The other two are known as harlequin ichthyosis and congenital ichthyosiform erythroderma. TGM1 accounts for 38%-55% of ARCI. Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. In autosomal recessive congenital ichthyosis (1:3–500,000) one abnormal gene is inherited from each parent. eritrodermia ictiosiforme congênita. Congenital ichthyosis type 4. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital … We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes three lipoxygenase genes, ALOXE3, ALOX12B, and ALOX15B. Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and autosomal dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma (see these terms). The skin barrier protects … Autosomal recessive congenital ichthyosis (ARCI) is a highly heterogeneous skin scaling disorder caused by abnormal skin keratinization. Wikimedia Commons has media related to Autosomal recessive diseases and disorders. It is characterized by dark-grey or brownish scaling restricted to … (a) Erythematous abdomen with fine white-to-brown adherent scale. J Am Acad Dermatol 63(4):607-641, 2010). Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous group of nonsyndromic cornification disorders broadly classified as harlequin ichthyosis, lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma (CIE); the latter two form extreme ends of a spectrum of overlapping phenotypes with a combined … ii. The Autosomal Recessive Congenital Ichthyosis market outlook of the report helps to build the detailed comprehension of the historic, current, and forecasted Autosomal Recessive Congenital Ichthyosis market trends by analyzing the impact of current therapies on the market, unmet needs, drivers and barriers and demand of better technology. These genes were selected based on the available evidence to date to … ZSD is inherited in an autosomal recessive pattern. Epidermolytic: This manifests with characteristic blisters on the skin and occurs at an early age. Because the patient displayed an atypical phenotype, including severe hair and nail manifestations, we scrutinized the exome sequencing data for additional By continuing to browse this site you are agreeing to our use of cookies. 24 These disorders share an inability to correctly form the outermost layer of the epidermis—the stratum corneum. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Hum Mutat. Topical therapies are used to reduce scaling; however, there … The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform … 242300. Ichthyosis can also be … Introduction. It is one of three genetic skin disorders called autosomal recessive congenital ichthyoses (ARCI). The patients were examined Autosomal recessive congenital ichthyosis (ARCI) is a clinically by one of the authors (TG-D) with the exception of heterogeneous group of inherited disorders 1 that affect two cases that were examined by local dermatologists the keratinisation process in the skin. High survival rate of harlequin ichthyosis in Japan. 57 Lamellar ichthyosis: Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. We examined a cohort of 125 consanguineous families with ARCI for underlying genetic mutations. NIPAL4. ARCI is a heterogeneous group of disorders of keratinization characterized mainly by abnormal skin scaling over the whole body. Background: Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. November 30, 2021. in Meditation. The major clinical features are: congenital collodion membrane, ectropion, eclabium, alopecia, … c.5778þ2T>C, p. G1900Mfs*16), a gene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis. Ichthyosis congenita is one such condition. (a and b) 1.5-yr-old female American bulldog with lesions that resemble congenital ichthyosiform erythroderma. A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. In humans, ARCI may manifest as 1 … The Journal of Pediatrics is an international peer-reviewed journal that advances pediatric research and serves as a practical guide for pediatricians who manage health and diagnose and treat disorders in infants, children, and adolescents.The Journal publishes original work based on standards of excellence and expert review. Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of cornification diseases associated with severe clinical complications and decreased quality of … Keratinopathic ichthyoses (1:200,000) have recessive and dominant forms and present at birth with a collodion membrane. There are two types of recessive diseases -- autosomal recessive and X-linked recessive -- that describe different patterns of inheritance. The opposite of recessive is dominant. See also Autosomal recessive; Dominant; and X-linked recessive. A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-6 (ARCI6) is caused by homozygous or compound heterozygous mutation in the NIPAL4 gene (609383) on chromosome 5q33. While a number of genetic mutations have been associated with the development of ARCI, the most common cause of ARCI is an inactivating mutation in the TGM1 gene encoding the enzyme transglutaminase-1, a protein that is essential for the proper formation of … by admin. Eine Erzahlung Von Hartmann von Aue. TEXT. Autosomal recessive congenital ichthyosis. 190195. Set)|Willie F. Page, Harcourt School Publishers Signatures: … Autosomal recessive congenital ichthyoses (ARCIs) are genetically heterogeneous syndromic and nonsyndromic disorders of cornification, characterized by generalized scaling with no histological evidence of epidermolysis. Histopathology. Mutations in the transglutaminase-1 ( TGM1 ) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the causes of ARCI. In the initial study that identified the causal genetic variant, researchers reported the variant occurred at high frequency in the breed (50%). Derived from two Greek words meaning "fish" and "disease," ichthyosis is a congenital (meaning present at birth) dermatological (skin) disease that is represented by thick, scaly skin. There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. November 30, 2021. in Meditation. Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. However, not all genetic causes for ARCI have been discovered to date. autosomal recessive congenital ichthyosis; benign persistent hematuria; Borst-Jadassohn phenomenon; brachyolmia type 3; Brill-Symmers disease; bulbopontopeduncular paralysis; cardiomyopathy, dilated, type 1Y; Castleman's disease; cerebral granulomatous angiitis; chondrodysplasia punctata; chondrodysplasia punctata X-linked recessive type 1

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